Presentation Transcript

An approach to a child with microcephaly :

Microcephaly :

Microcephaly A child whose head circumference is more than
three standard deviations below the mean for
age and sex

Slide 3:

Normal head circumference at birth
Male: 35cm(mean) range = 32---37 cm
Female: 34cm(mean)
Rate of growth of head circumference
2cm/month 1st three months of life
1cm/month 4-6 months of age
0.5cm/month 6-12 months of age
47cm at 1 yr of age
49 cm at 2 yrs of age

Slide 6:

HC reflects brain volume, a small skull reflects a small brain.
Incidence of moderate to severe mental retardation
HC from 2-3 SD below the age is 33%.
HC > 3 SD, incidence is 62%
Not always associated with mental retardation

Others….. :

pathogenesis :

pathogenesis Occurs as a result of
Small brain & poorly growing skull
An abnormal neuronal migration during fetal development.
Cytoarchitectural derangements.
heterotopias of neuronal cells.

Microcephaly Vera :

Microcephaly Vera an Autosomal recessive disorder
severe hypoplasia of the frontal regions of the brain and skull.
severe mental retardation.
Note: HC alone should never be used to establish a prognosis for intellectual development.

Slide 33:

Examination :

Examination Introduction of oneself to the parents
Size of the parents & other siblings head circumference
Note the child’s alertness
Look for any Dysmorphic feature
( intrauterine TORCH, de Lange, Rubinstein Taybi)

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Note the child’s overall growth
generally small
only head small
examine the head for any scar marks
( surgical repair of Craniosynostosis, closure of Encephalocele)

Contd.. :

Contd.. Shape of the head
flat occiput of Autosomal recessive microcephaly
Palpate the head for ridging along the suture line & any deformity of skull contour
(Craniosynostosis) or bony defects ( repaired Encephalocele)

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Genetic studies are indicated in patients
with Dysmorphic features

:

Microcephaly may be diagnosed before birth by prenatal ultrasound.
Genetic counseling should be done

Management :

Management No treatment for microcephaly
Baby’s head cannot be returned to a normal size & shape
Includes focusing on preventing or minimizing deformities & maximizing the child’s capabilities at home & in the community.